Incidental Mutation 'R7682:Vmn2r88'
| ID |
592840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r3, V2r13 |
| MMRRC Submission |
045748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51410819-51419527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51418449 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 705
(Q705L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022438
AA Change: Q714L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: Q714L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: Q705L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228139
AA Change: Q706L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,759,485 (GRCm38) |
S196T |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,368,053 (GRCm38) |
D977G |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 83,987,924 (GRCm38) |
V8A |
probably benign |
Het |
| Adamts9 |
T |
A |
6: 92,880,698 (GRCm38) |
I870F |
possibly damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,794,560 (GRCm38) |
V1414I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,368,426 (GRCm38) |
K275R |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,672,546 (GRCm38) |
I1104V |
possibly damaging |
Het |
| Angptl7 |
A |
T |
4: 148,498,082 (GRCm38) |
I119N |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,988,235 (GRCm38) |
E129D |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,543,153 (GRCm38) |
H2127Q |
probably benign |
Het |
| Brd4 |
A |
G |
17: 32,201,160 (GRCm38) |
F1008S |
unknown |
Het |
| Car2 |
T |
C |
3: 14,887,965 (GRCm38) |
S56P |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 46,632,385 (GRCm38) |
Y41C |
probably benign |
Het |
| Ces4a |
A |
T |
8: 105,146,665 (GRCm38) |
T381S |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,626,101 (GRCm38) |
T77A |
possibly damaging |
Het |
| Cul7 |
G |
T |
17: 46,655,595 (GRCm38) |
V615L |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,316,740 (GRCm38) |
F24L |
probably damaging |
Het |
| Emsy |
G |
A |
7: 98,590,698 (GRCm38) |
R1263W |
probably damaging |
Het |
| Fam124b |
A |
T |
1: 80,213,565 (GRCm38) |
C34S |
possibly damaging |
Het |
| Fan1 |
C |
A |
7: 64,372,764 (GRCm38) |
G247V |
probably benign |
Het |
| Glipr1l3 |
T |
G |
10: 112,141,872 (GRCm38) |
H218P |
probably benign |
Het |
| Gm11639 |
T |
A |
11: 104,964,348 (GRCm38) |
|
probably null |
Het |
| Gm13084 |
A |
G |
4: 143,810,720 (GRCm38) |
L347S |
probably benign |
Het |
| Gm14305 |
T |
A |
2: 176,720,910 (GRCm38) |
S198R |
probably benign |
Het |
| Gm14326 |
T |
C |
2: 177,948,481 (GRCm38) |
Y29C |
probably damaging |
Het |
| Gm45713 |
C |
T |
7: 45,134,002 (GRCm38) |
V147I |
probably benign |
Het |
| Gpr149 |
C |
T |
3: 62,530,739 (GRCm38) |
D666N |
probably damaging |
Het |
| Gpr183 |
A |
G |
14: 121,954,740 (GRCm38) |
I123T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,512,927 (GRCm38) |
H165Q |
probably damaging |
Het |
| Krt73 |
A |
G |
15: 101,802,045 (GRCm38) |
F85L |
probably benign |
Het |
| Lrrc29 |
C |
A |
8: 105,315,284 (GRCm38) |
R304L |
possibly damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,812,791 (GRCm38) |
T356A |
probably damaging |
Het |
| Marco |
A |
G |
1: 120,494,042 (GRCm38) |
|
probably null |
Het |
| Mettl14 |
T |
A |
3: 123,383,604 (GRCm38) |
E49D |
possibly damaging |
Het |
| Mrap |
T |
A |
16: 90,749,222 (GRCm38) |
|
probably null |
Het |
| Mrps34 |
C |
T |
17: 24,895,878 (GRCm38) |
A152V |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,573,773 (GRCm38) |
Y1163F |
unknown |
Het |
| Nfic |
T |
C |
10: 81,420,500 (GRCm38) |
D110G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,057,119 (GRCm38) |
V28A |
possibly damaging |
Het |
| Odam |
T |
C |
5: 87,892,428 (GRCm38) |
F251S |
possibly damaging |
Het |
| Olfm5 |
T |
A |
7: 104,161,772 (GRCm38) |
Q53L |
probably null |
Het |
| P2ry13 |
T |
G |
3: 59,210,124 (GRCm38) |
M78L |
probably benign |
Het |
| Pacs1 |
T |
C |
19: 5,152,699 (GRCm38) |
E385G |
probably damaging |
Het |
| Pip5k1b |
C |
T |
19: 24,359,979 (GRCm38) |
G315D |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,886,271 (GRCm38) |
R145L |
probably damaging |
Het |
| Rars |
T |
C |
11: 35,828,752 (GRCm38) |
Q81R |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 141,217,934 (GRCm38) |
N296D |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,657,693 (GRCm38) |
A94T |
probably benign |
Het |
| Rgs8 |
T |
C |
1: 153,690,922 (GRCm38) |
F73S |
probably damaging |
Het |
| Rilpl2 |
A |
C |
5: 124,477,980 (GRCm38) |
Y36D |
probably damaging |
Het |
| Rpl10l |
A |
G |
12: 66,284,230 (GRCm38) |
V43A |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,496,889 (GRCm38) |
I403V |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,007,110 (GRCm38) |
S15L |
unknown |
Het |
| Slc7a5 |
T |
C |
8: 121,907,140 (GRCm38) |
Y156C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,668,665 (GRCm38) |
H105R |
|
Het |
| Specc1l |
A |
G |
10: 75,245,802 (GRCm38) |
D344G |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,162,461 (GRCm38) |
V415A |
probably benign |
Het |
| Thbs4 |
T |
G |
13: 92,775,562 (GRCm38) |
D220A |
probably benign |
Het |
| Tmco5 |
T |
C |
2: 116,886,271 (GRCm38) |
S152P |
probably benign |
Het |
| Tmem35b |
A |
T |
4: 127,128,941 (GRCm38) |
D125V |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,966,808 (GRCm38) |
E155G |
possibly damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,047,615 (GRCm38) |
V615G |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,305,321 (GRCm38) |
R414G |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,508,849 (GRCm38) |
L478P |
probably damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,125 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,417,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,418,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,414,140 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,414,502 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,418,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,418,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,416,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,413,030 (GRCm38) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,418,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,418,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,413,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,413,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,414,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,418,689 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,413,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,418,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,413,978 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,413,190 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,415,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,413,289 (GRCm38) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,417,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,418,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,418,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,418,793 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,418,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,413,334 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,413,339 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,413,245 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,413,181 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,411,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,413,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,418,149 (GRCm38) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,415,369 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,414,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,413,969 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,418,643 (GRCm38) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,413,796 (GRCm38) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,418,319 (GRCm38) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,414,255 (GRCm38) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,410,858 (GRCm38) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,413,997 (GRCm38) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,417,989 (GRCm38) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,418,703 (GRCm38) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,413,132 (GRCm38) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,414,107 (GRCm38) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,413,073 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,414,066 (GRCm38) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,418,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,411,136 (GRCm38) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,418,526 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,413,167 (GRCm38) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,414,033 (GRCm38) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,410,872 (GRCm38) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,418,740 (GRCm38) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,411,184 (GRCm38) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,413,732 (GRCm38) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,413,127 (GRCm38) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,413,832 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,187 (GRCm38) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,046 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,413,201 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGCAGCAGACCACATTTG -3'
(R):5'- ACCAGCATGCTGAAAGTCAG -3'
Sequencing Primer
(F):5'- CACATTTGGAGTATTTTTCACTGTG -3'
(R):5'- CTGAAAGTCAGGAATTTGGCTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation